Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19

Rare Disease Institute

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID-19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on initial and follow-up visits in the patients' home. The goals were to increase access to care, decrease missed work, improve scheduling, and avoid the transport and exposure of medically fragile patients. Visits were conducted by physician medical geneticists, genetic counselors, and biochemical dietitians, together and separately. This allowed the program to develop detailed standard operating procedures. At the onset of the COVID-19 pandemic, this pilot-program was deployed by the full team of 22 providers in one business day. Two physicians remained on-site for patients requiring in-person evaluations. This model optimized patient safety and workforce preservation while providing full access to patients during a pandemic. We provide initial data on visit numbers, types of diagnoses, and no-show rates. Experience in this implementation before and during the pandemic has confirmed the effectiveness and value of telemedicine for a highly complex medical population. This program is a model that can and will be continued well-beyond the current crisis.

Original languageEnglish (US)
Pages (from-to)68-72
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
StatePublished - Oct 14 2020

Bibliographical note

Funding Information:
BlueCross BlueShield CareFirst Foundation; Health Resources and Services Administration (HRSA), Grant/Award Number: Cooperative Agreement #UH7MC30773 (6/2017‐5/2020); Unrestricted philanthropic grant from BioMarin (San Rafael, California) and Retrophin Inc Funding information

Funding Information:
Special thanks to dietitians Danielle Starin, RD and Erin McLeod, RD, PhD who worked on weekly patient newsletters and always remain on call for patients and their families. Thanks to our administrative staff who moved mountains of paperwork into digital bits. Special thanks to: Children's National Hospital institution-wide telemedicine team, including Dr. Alejandro Lopez-Magallon, Dr. Ricardo Munez, Dr. Marc Difazio, and Dr. Rachel Selekman; Arial McDade, Benjamin Parrish and Ryan Lee Pearman; to our call center team: John Schultz, Conklin Blain Gentry III, and Zenobia Burns who worked around the clock to provide people with access and us data; to our telemedicine trainees and students led by Dr. Andrea Cohen and Maxwell Summerlin. Thank you for our patients and families who provided incredible support and serve as our source of inspiration and motivation. We are privileged to be part of their lives.

Publisher Copyright:
© 2020 Wiley Periodicals LLC


  • COVID-19
  • genetics
  • pediatrics
  • telemedicine


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